Unbalanced child from a balanced translocation carrier?

[MrsEshaw]

Does anyone else who has a balanced translocation, have an unbalanced child?

It's hard to imagine that I'm the only one!!!

We're going to do IVF with PGD very soon.

 

[kaykaysmom]

What does that mean? sorry for asking

 

[MrsEshaw]

it's complicated to explain quickly..

google "balanced translocation" 1 in 625 people has this problem...

 

[Megg33k]

Honestly, it's hard to explain slowly too! I've read about it... and it's just kind of complicated, period.

 

[CaseyK]

HI There,

You are not alone!

I have a 16 week old daughter with an unbalanced translocation 15/18. My husband has a balanced translocation of the same. We never had any reason to suspect anything as I had a normal pregnancy. Baby was born via emergency c-section at 41 weeks and 3 days and was tiny (2.4kgs) but all was well. She looked normal, happy and adorable.
She suffered a (suspected) seizure about 6 hours after birth and stopped breathing. She was admitted to the NICU and spent 4 weeks having tests done to find out what was going on.
The only reason they did genetic testing was due to the fact that she was small at birth. We have since found out that she did infact stop growing inutero at 36 weeks. This now means that she would be considered premature regardless of my dates.
So far since she has been home we have had no problems.
Lots of follow up and testing as we can not find anything in the world that is simular to what our baby has.
She is developing normally and hitting all the necessary milestones. She is still small but is putting on weight enough for the doctors to be happy.
We have no idea what the future holds for our beautiful - very cheeky - daughter, but so far you would never be able to tell that there is an issue.

We have been advised that PGD/IVF would be the safest way to conceive for any future pregnancies as we have a 50/50 chance of this all happening again.

Please feel free to ask any questions as this is a whole new world for our family as it would be for yours, but would like you all to know that you are not alone...

 

[Mummy2Boo]

We're currently going through genetic screening/testing as our son has a probably diagnosis of a rare congenital condition. Not quite sure how things will pan out but already our geneticist has mentioned PGD/IVF as an option (he knows we are having trouble TTC)

 

[Want2bMum]

Does anyone else who has a balanced translocation, have an unbalanced child?

It's hard to imagine that I'm the only one!!!

We're going to do IVF with PGD very soon.

I am sure that there are many many families in your same situation. It is true that if 1 or both parents are balanced translocations carriers, the offspring will have 1 in 4 (for 1 affected parent) chances but it is also true that there are so many mistakes in dna replication that occur naturally. these are called de novo and can happen to anyone.
There are different degrees of severity for the affected individual, I hope that your baby will have a very healthy life, sometimes loss of genetic aterial doesn't necessarily lead to severe impairment.
best of luck

 

[Tatertot]

My husband has a balanced translocation on chromosomes 1 and 4.

My son had an unbalanced translocation on chromosomes 1 and 4. He only lived seventeen days due to the severity of his heart and brain problems.

We're sort of TTC without IVF/PGD because of the expense involved. Its scary to think of it happening again, but we feel like we'd always wonder if we didn't try again. That being said, if it does happen again, we're done.

There is a specialist in New York and gave us the percentage of it happening again and miscarriage rates and stuff. We know we don't have much of a chance, but feel we have to try. Risk of miscarriage is 30%. Risk of some kind of genetic issue (balanced translocation, unbalanced translocation like my son had, or the opposite issue) is 13%-26%. I'm not sure why there is such a range.

 

[Want2bMum]

In the states prices can be really high and med insurance doesn't cover costs.

I have heard of many couples going to east europe or spain where costs are far lower. maybe you could give it a google look?

best of luck

 

[Tatertot]

In the states prices can be really high and med insurance doesn't cover costs.

I have heard of many couples going to east europe or spain where costs are far lower. maybe you could give it a google look?

best of luck

The flight to east europe/spain will cost as much as IVF. Especially if you factor in the money we'll lose being away from work. Plus it seems risky to do. I'm not sure why. And what are the odds that the pregnancy would stick? If I'm going to spend that much money and put that much effort into it, I want some fabulous odds!

 

[Want2bMum]

Hey tatertot,

I don't live in the states, I am not sure about the prices over there so I cannot estimate if prices of flights, treatment and time off work will be worth a try.

I am not saying that going to east europe or spain maybe the solution, I just think it is cheaper. The lower price depends on the market ( not many people being able to afford it there) and on the exchange value of the dollar. This depends though of which country u choose.
I don't think it should necessarily be riskier as nowadays procedures are standardised, you would not go through their state public health system, u'd go private.
I think one has to make sure to do all necessary research and also get them to liaise with your gp or gyno.

The best of luck whatever you decide to do

hugs

 

[ljo1984]

Hiya i don't have a translocation but my baby girl I lost in 2008 had genetic tests done and she had a balanced translocation Mit 11 and 17 so I've done my research and am aware of high risks of having an unbalanced baby so just wanted to send hugs and baby dust. Xxxxx

 

[Tatertot]

Here in the US (at least according to my research which was minimal) IVF is about $8000 without meds. PGD is at least $4000 on top of that.

 

[Want2bMum]

I will look into prices in europe over the week-end. I cannot promise they will be cheaper but I'll let you know what I find.
x

 

[Want2bMum]

Here in the US (at least according to my research which was minimal) IVF is about $8000 without meds. PGD is at least $4000 on top of that.

Hi,
can you give me your e-mail address? or if you want I can write on this thread, as u prefer. I found something in london, still expensive, but less than in the states if u agree to egg sharing. I also requested few quotes to a private clinic in greece.

x

 

[anb3]

hi. I carry a balanced translocation of 1 and 15. in 2010 I had a son born with the unbalanceddisorder and so thats how i found out. it was devastating and he has been through so much pain in his life, but hes starting to come around. we recently found out we r expecting again. we had a cvs done at 10 weeks and found out we r having a girl, but unfortunately she also has the unbalanced translocation. we decided not to terminate the pregnancy and have her. I wish I could afford ivf/pgd, Ido wamt a big family.